Estudi higiènicosanitari de la situació de les guarderies i centres d’educació infantil de 0 a 3 anys a Palma 2010-2011

The aim of this study is to offer an insight into the health and hygiene conditions of all the kindergartens and infant education centres for children aged from 0 to 3 in the municipality of Palma during the period from 2010 to 2011. The results are based on health and hygiene inspections carried out by the medical staff of Palma City Council’s Municipal Health Centre.El objetivo de este artículo es dar a conocer el estado higiénico-sanitario de todas las guarderías y centros de educación infantil de 0 a 3 años del término municipal de Palma durante los años 2010-2011. Los resultados han sido obtenidos a partir de las inspecciones higiénico-sanitarias realizadas por el personal técnico médico del Centro Municipal de Salud del Ayuntamiento de Palm

A health and hygiene study of the situation in kindergartens and infant education centres for children aged from 0 to 3 in Palma, 2010-2011

The aim of this study is to offer an insight into the health and hygiene conditions of all the kindergartens and infant education centres for children aged from 0 to 3 in the municipality of Palma during the period from 2010 to 2011. The results are based on health and hygiene inspections carried out by the medical staff of Palma City Council’s Municipal Health Centre

Multidrug resistance protein 1 localization in lipid raft domains and prostasomes in prostate cancer cell lines

Background: One of the problems in prostate cancer (CaP) treatment is the appearance of the multidrug resistance phenotype, in which ATP-binding cassette transporters such as multidrug resistance protein 1 (MRP1) play a role. Different localizations of the transporter have been reported, some of them related to the chemoresistant phenotype. Aim: This study aimed to compare the localization of MRP1 in three prostate cell lines (normal, androgen-sensitive, and androgen-independent) in order to understand its possible role in CaP chemoresistance. Methods: MRP1 and caveolae protein markers were detected using confocal microscopy, performing colocalization techniques. Lipid raft isolation made it possible to detect these proteins by Western blot analysis. Caveolae and prostasomes were identified by electron microscopy. Results: We show that MRP1 is found in lipid raft fractions of tumor cells and that the number of caveolae increases with malignancy acquisition. MRP1 is found not only in the plasma membrane associated with lipid rafts but also in cytoplasmic accumulations colocalizing with the prostasome markers Caveolin-1 and CD59, suggesting that in CaP cells, MRP1 is localized in prostasomes. Conclusion: We hypothesize that the presence of MRP1 in prostasomes could serve as a reservoir of MRP1; thus, taking advantage of the release of their content, MRP1 could be translocated to the plasma membrane contributing to the chemoresistant phenotype. The presence of MRP1 in prostasomes could serve as a predictor of malignancy in Ca

Clinical Efficacy and Safety of Fanhdi^®, a Plasma-Derived VWF/Factor VIII Concentrate, in von Willebrand Disease in Spain: A Retrospective Study

Objective: To evaluate the efficacy and safety of a plasma-derived factor VIII concentrate containing von Willebrand Factor (pdVWF/FVIII) in standard clinical practice in von Willebrand Disease (VWD) patients. Methods: A retrospective, multicentric, observational study of VWD patients treated with Fanhdi®, a pdVWF/FVIII concentrate, from January 2011 to December 2017 was conducted at 14 centers in Spain. Efficacy and safety were evaluated for acute bleeding episodes, for prevention of bleeding in surgeries, and for secondary long-term prophylaxis. Results: Seventy-two eligible patients, type 1, 2, 3 VWD (25%/38.9%/36.1%) were treated for spontaneous and traumatic bleeding (140 episodes, n = 41 patients), to prevent surgical bleeding (69 episodes, n = 43 patients); and for secondary long-term prophylaxis (18 programs, n = 13 patients). Replacement therapy with pdVWF/FVIII showed an excellent to good clinical efficacy in 96.7% of the bleeding episodes, 100% during surgical procedures and 100% during prophylaxis. No adverse events (AEs), nor serious AEs related to the product were observed. Conclusions: Fanhdi® was effective, safe and well tolerated in the management of bleeding episodes, the prevention of bleeding during surgeries, and for secondary long-term prophylaxis in VWD patientsThe author(s) disclosed receipt of the followingfinancial support forthe research, authorship, and/or publication of this article: This workwas supported by Grifols, manufacturer of the pdVWF/FVIII,Fanhdi

Clinical Efficacy and Safety of Fanhdi ®, a Plasma-Derived VWF/Factor VIII Concentrate, in von Willebrand Disease in Spain : A Retrospective Study

UDHEBRONTo evaluate the efficacy and safety of a plasma-derived factor VIII concentrate containing von Willebrand Factor (pdVWF/FVIII) in standard clinical practice in von Willebrand Disease (VWD) patients. A retrospective, multicentric, observational study of VWD patients treated with Fanhdi ®, a pdVWF/FVIII concentrate, from January 2011 to December 2017 was conducted at 14 centers in Spain. Efficacy and safety were evaluated for acute bleeding episodes, for prevention of bleeding in surgeries, and for secondary long-term prophylaxis. Seventy-two eligible patients, type 1, 2, 3 VWD (25%/38.9%/36.1%) were treated for spontaneous and traumatic bleeding (140 episodes, n = 41 patients), to prevent surgical bleeding (69 episodes, n = 43 patients); and for secondary long-term prophylaxis (18 programs, n = 13 patients). Replacement therapy with pdVWF/FVIII showed an excellent to good clinical efficacy in 96.7% of the bleeding episodes, 100% during surgical procedures and 100% during prophylaxis. No adverse events (AEs), nor serious AEs related to the product were observed. Fanhdi ® was effective, safe and well tolerated in the management of bleeding episodes, the prevention of bleeding during surgeries, and for secondary long-term prophylaxis in VWD patients

Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment

Background:Niemann-Pick disease Type C (NPC) is a genetic, incurable, neurodegenerative disorder. This orphan disease is most frequently caused by mutations in the NPC1 protein, resulting in intralysossomal cholesterol accumulation. NPC1 is found in neuronal cell bodies, axon terminals and synaptosomes, suggesting it plays a role in lysosomal degradation pathway and in synaptic transmission. Neuronal function is especially vulnerable to NPC1 deficiency and synaptic changes seem a key element in disease development. Currently, Miglustat (Zavesca (R)) is the only approved treatment for NPC. However, preclinical evidence showed that low-dose Efavirenz reverted synaptic defects through pharmacological activation of the enzyme CYP46. Methods:This is a single-center, phase II clinical trial to evaluate the efficacy and safety of Efavirenz in addition to standard of care in patients diagnosed with adult or late juvenile-onset NPC with cognitive impairment. All enrolled patients will be treated orally with 25 mg/d of Efavirenz for 52 weeks (1 year). Secondary objectives include evaluating clinical (neurological and neuropsychological questionnaires) and biological (imaging and biochemical biomarkers) parameters. Discussion:NPC is still an unmet medical need. Although different therapeutic approaches are under study, this is the first clinical trial (to the best of our knowledge) studying the effects of Efavirenz in adult- and late-juvenile-onset NPC. Despite the small sample size and the single-arm design, we expect the results to show Efavirenz's capacity of activating the CYP46 enzyme to compensate for NPC1 deficiency and correct synaptic changes, therefore compensating cognitive and psychiatric changes in these patients. This study may provide direct benefit to enrolled patients in terms of slowing down the disease progression

Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry

Inherited disorders of neurotransmitter metabolism are a group of rare diseases, which are caused by impaired synthesis, transport, or degradation of neurotransmitters or cofactors and result in various degrees of delayed or impaired psychomotor development. To assess the effect of neurotransmitter deficiencies on intelligence, quality of life, and behavior, the data of 148 patients in the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD) was evaluated using results from standardized age-adjusted tests and questionnaires. Patients with a primary disorder of monoamine metabolism had lower IQ scores (mean IQ 58, range 40-100) within the range of cognitive impairment (<70) compared to patients with a BH4 deficiency (mean IQ 84, range 40-129). Short attention span and distractibility were most frequently mentioned by parents, while patients reported most frequently anxiety and distractibility when asked for behavioral traits. In individuals with succinic semialdehyde dehydrogenase deficiency, self-stimulatory behaviors were commonly reported by parents, whereas in patients with dopamine transporter deficiency, DNAJC12 deficiency, and monoamine oxidase A deficiency, self-injurious or mutilating behaviors have commonly been observed. Phobic fears were increased in patients with 6-pyruvoyltetrahydropterin synthase deficiency, while individuals with sepiapterin reductase deficiency frequently experienced communication and sleep difficulties. Patients with BH4 deficiencies achieved significantly higher quality of life as compared to other groups. This analysis of the iNTD registry data highlights: (a) difference in IQ and subdomains of quality of life between BH4 deficiencies and primary neurotransmitter-related disorders and (b) previously underreported behavioral traits.Dietmar Hopp Stiftung (DE); Medical Faculty of the University of Heidelberg

Bases per al desenvolupament del model organitzatiu d’atenció integral a la població adulta amb necessitats pal·liatives i en situació de final de la vida

Atenció integral; Població adulta; Cures pal·liatives; Malalties limitantsComprehensive care; Adult population; Palliative care; Limiting illnessesAtención integral; Población adulta; Cuidados paliativos; Enfermedades limitantesAquest document, emmarcat en el Pla de salut 2016-2020, pretén considerar i alinear les directrius en l’atenció al final de la vida i cures pal·liatives derivades del Pla director sociosanitari, així com les impulsades pel Programa de prevenció i atenció a la cronicitat en matèria de cronicitat avançada. Recull les bases per al desenvolupament del model d’atenció al final de la vida a Catalunya, entenent l’etapa de final de vida amb una mirada àmplia, que va des de la fase avançada de la malaltia fins a la mort, i fins i tot més enllà, amb el procés de dol dels familiars i persones de l’entorn

Bases per al desenvolupament del model organitzatiu d’atenció integral a la població infantil i juvenil amb necessitats pal·liatives i en situació de final de la vida

Atenció integral; Població infantil i juvenil; Cures pal·liatives; Malalties limitantsAtención integral; Población infantil y juvenil; Cuidados paliativos; Enfermedades limitantesComprehensive care; Children and youth population; Palliative care; Limiting illnessesLes cures pal·liatives pediàtriques proporcionen una atenció integral, interdisciplinària i transversal als nens i joves que tenen malalties limitants per a la vida, necessitats pal·liatives i/o que es troben en situació de final de la vida. Aquest document, emmarcat en el Pla de Salut de Catalunya 2016-2020, recull les bases per al desenvolupament del model pediàtric d’atenció al final de la vida a Catalunya. Inicialment, prenent com a referència documents d’organitzacions internacionals i estatals, es defineix què són les cures pal·liatives pediàtriques, a qui van dirigides i quines són les singularitats i especificitats respecte a les cures pal·liatives de la població adulta. També inclou una anàlisi de situació en què es descriuen quines són les necessitats pal·liatives de la població pediàtrica, de quins recursos es disposa per atendre aquestes necessitats i on s’atenen els nens i joves en els darrers dies de vida. S’estima que a Catalunya hi ha entre 1.500 i 1.800 nens i joves que tenen una malaltia limitant per a la seva vida. D’aquests, entre 750 i 900 tenen necessitat de ser atesos per equips de cures pal·liatives pediàtriques. Tenint en compte les dades de mortalitat dels darrers anys, aproximadament 400 nens i joves (menors de 20 anys) moren anualment en el nostre territori. D’aquests, el 63% moren per causes previsibles i es consideren subsidiaris de rebre cures pal·liatives pediàtriques. Encara que són diferents els àmbits, nivells i recursos assistencials que intervenen o poden intervenir en l’atenció que requereix el nen o el jove i la seva família, la majoria de les morts de la població pediàtrica es produeixen a l’hospital d’aguts. Posteriorment es presenta quina és la visió dels professionals, pacients i cuidadors respecte a les cures pal·liatives pediàtriques a Catalunya. Aquesta percepció es va recollir a través de grups de treball presencials i telemàtics i va permetre identificar aspectes clau que el model pediàtric d’atenció pal·liativa havia de considerar i cobrir. Es van identificar nou grups de garanties que el model pediàtric d’atenció pal·liativa i al final de la vida havia de preveure: àrea clínica; atenció centrada en la persona; competència professional; cuidar el cuidador; equitat, accessibilitat, continuïtat i proximitat; atenció domiciliària; coordinació assistencial; avaluació, millora, innovació i recerca, i adequació estructural i tecnològica. Finalment, mantenint els grups de garanties establerts a partir de la visió dels professionals, pacients i cuidadors, el document recull un conjunt de recomanacions per assolir aquelles garanties que han estat identificades i prioritzades com a imprescindibles per oferir a la població pediàtrica una atenció pal·liativa de qualitat. Concretament, es plantegen 42 recomanacions generals, 10 recomanacions específiques per a determinats grups de població susceptibles de rebre cures pal·liatives pediàtriques (perinatals i malalties minoritàries)i 8 recomanacions específiques per a diferents àmbits assistencials